ACUTE INTERMITTENT PORPHYRIA (AIP) - HMBS GENE - (B)
Test Code: MD
Only two mutations, 161-1G>C and p.Arg225X, in the porphobilinogen deaminase (HBMS) gene are tested for. Patients must have a family history for one of these two specific mutations.
Blood: 8.0 mL
Pediatric Blood: 3.0 mL
Specimen must be kept at room temperature. Pediatric volume for infants only.
An interpretive report will be sent.
Within 8 Weeks
DO NOT centrifuge. Specimen is forwarded to Health Sciences Centre - MS5 for analysis. Store and ship specimens at room temperature. Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).